Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 2

Results: 19

CORRECTION: Genomic structure of the human DNA mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC).

Published in:: Human Molecular Genetics, 2000, v. 9, n. 2, p. 321
Publication type:: Article

Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 195, doi. 10.1093/hmg/9.2.195

By:

Baxter, Laura L.

Publication type:

Article

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 259, doi. 10.1093/hmg/9.2.259

By:

Lorson, Christian L.;
Androphy, Elliot J.

Publication type:

Article

Inhibition of p160-mediated coactivation with increasing androgen receptor polyglutamine length.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 267, doi. 10.1093/hmg/9.2.267

By:

Irvine, Ryan A.;
Ma, Han;
Yu, Mimi C.;
Ross, Ronald K.;
Stallcup, Michael R.;
Coetzee, Gerhard A.

Publication type:

Article

Neocentromeres and alpha satellite: a proposed structural code for functional human centromere DNA.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 149, doi. 10.1093/hmg/9.2.149

By:

Koch, Jørn

Publication type:

Article

Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 155, doi. 10.1093/hmg/9.2.155

By:

Ikeda, Sakae

Publication type:

Article

A mouse model for valproate teratogenicity: parental effects, homeotic transformations, and altered HOX expression.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 227, doi. 10.1093/hmg/9.2.227

By:

Faiella, Antonio

Publication type:

Article

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 237, doi. 10.1093/hmg/9.2.237

By:

Ars, Elisabet

Publication type:

Article

Restrained chondrocyte proliferation and maturation with abnormal growth plate vascularization and ossification in human FGFR-3[sup G380R] transgenic mice.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 249, doi. 10.1093/hmg/9.2.249

By:

Segev, Orit;
Chumakov, Irina;
Nevo, Zvi;
Givol, David;
Madar-Shapiro, Liora;
Sheinin, Yuri;
Weinreb, Miron;
Yayon, Avner

Publication type:

Article

Human centromeres and neocentromeres show identical distribution patterns of >20 functionally important kinetochore-associated proteins.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 175, doi. 10.1093/hmg/9.2.175

By:

Saffery, Richard

Publication type:

Article

Involvement of PTEN mutations in the genetic pathways of colorectal cancerogenesis.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 283, doi. 10.1093/hmg/9.2.283

By:

Guanti, Ginevra

Publication type:

Article

Alzheimer's presenilin 1 is a putative membrane receptor for rab GDP dissociation inhibitor.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 303, doi. 10.1093/hmg/9.2.303

By:

Scheper, W.

Publication type:

Article

Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 275, doi. 10.1093/hmg/9.2.275

By:

Bradley, J.L.;
Blake, J.C.;
Chamberlain, S.;
Thomas, P.K.;
Cooper, J.M.;
Schapira, A.H.V.

Publication type:

Article

Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expression.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 203, doi. 10.1093/hmg/9.2.203

By:

Prawitt, Dirk

Publication type:

Article

Myoferlin, a candidate gene and potential modifier of muscular dystrophy.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 217, doi. 10.1093/hmg/9.2.217

By:

Davis, Dawn Belt;
Delmonte, Anthony J.;
Ly, Chantal T.;
McNally, Elizabeth M.

Publication type:

Article

A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 311, doi. 10.1093/hmg/9.2.311

By:

Lahn, Bruce T.

Publication type:

Article

Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 165, doi. 10.1093/hmg/9.2.165

By:

Fougerousse, Francoise

Publication type:

Article

Poly(ADP-ribose) polymerase at active centromeres and neocentromeres at metaphase.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 187, doi. 10.1093/hmg/9.2.187

By:

Earle, Elizabeth

Publication type:

Article

A novel human odorant-binding protein gene family resulting from genomic duplicons at 9q34: differential expression in the oral and genital spheres.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 289, doi. 10.1093/hmg/9.2.289

By:

Lacazette, Eric

Publication type:

Article